chr6-94230551-G-A

Variant names:

• chr6-94230551-G-A
• rs9360055

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.132 in 152,072 control chromosomes in the GnomAD database, including 1,718 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.13 (1718 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.817
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.29).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.288 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20128 AN: 151954 Hom.: 1714 Cov.: 32

Gnomad AFR AF: 0.0323

Gnomad AMI AF: 0.106

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.103

Gnomad EAS AF: 0.300

Gnomad SAS AF: 0.182

Gnomad FIN AF: 0.166

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.176

Gnomad OTH AF: 0.124

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.132 AC: 20145 AN: 152072 Hom.: 1718 Cov.: 32 AF XY: 0.134 AC XY: 9934 AN XY: 74358

African (AFR) AF: 0.0323 AC: 1339 AN: 41496

American (AMR) AF: 0.126 AC: 1922 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.103 AC: 356 AN: 3466

East Asian (EAS) AF: 0.300 AC: 1551 AN: 5164

South Asian (SAS) AF: 0.182 AC: 880 AN: 4832

European-Finnish (FIN) AF: 0.166 AC: 1756 AN: 10576

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.176 AC: 11961 AN: 67972

Other (OTH) AF: 0.125 AC: 264 AN: 2104

Alfa AF: 0.150 Hom.: 2571

Bravo AF: 0.122

Asia WGS AF: 0.191 AC: 663 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.29
CADD	Benign	15
DANN	Benign	0.57
PhyloP100		0.82

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs9360055; hg19: chr6-94940269;